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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymph...

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Detalles Bibliográficos
Autores principales: Kaasinen, Eevi, Kuismin, Outi, Rajamäki, Kristiina, Ristolainen, Heikki, Aavikko, Mervi, Kondelin, Johanna, Saarinen, Silva, Berta, Davide G., Katainen, Riku, Hirvonen, Elina A. M., Karhu, Auli, Taira, Aurora, Tanskanen, Tomas, Alkodsi, Amjad, Taipale, Minna, Morgunova, Ekaterina, Franssila, Kaarle, Lehtonen, Rainer, Mäkinen, Markus, Aittomäki, Kristiina, Palotie, Aarno, Kurki, Mitja I., Pietiläinen, Olli, Hilpert, Morgane, Saarentaus, Elmo, Niinimäki, Jaakko, Junttila, Juhani, Kaikkonen, Kari, Vahteristo, Pia, Skoda, Radek C., Seppänen, Mikko R. J., Eklund, Kari K., Taipale, Jussi, Kilpivaara, Outi, Aaltonen, Lauri A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424975/
https://www.ncbi.nlm.nih.gov/pubmed/30890702
http://dx.doi.org/10.1038/s41467-019-09198-7